FDA approves first drug therapy for rare metabolic diseases

LC-FAOD is a set of autosomal recessive genetic diseases characterized by metabolic defects in which the body cannot convert long-chain fatty acids into energyThe failure of the patient to convert fat into energy causes severe depletion of glucose in the body and serious complications, which can lead to hospitalization or premature deathLC-FAOD is included in neonatal screening tests in the United States and some European countries due to the risk of serious outcomes, including early deathDojolvi is a high-purity, medicinal grade, odd-numbercarbon medium-chain triglycerides that add three 7 carbon fatty acid formations through multiple chemical synthesis steps on the glycerin skeletonIt is designed to provide patients with LC-FAOD with medium-chain, odd carbon fatty acids as alternatives to energy and metabolitesDojolvi's approval is supported by a variety of evidence, including results of APhase 2 clinical trials with 29 patients, a long-term safety and efficacy extension study of 75 patients, and data from 20 patients with sympathetic medication and 67 patients treated through extended use"
Fda approved Dojolvi for the treatment of long-chain fatty acid oxidation disorder is a huge milestone for patients and their families," said DrJerry Vockley, director of medical genetics at Pittsburgh Children's HospitalDojolvi as a new tool offers hope for clinicians to care for these patientsResearch on rare diseases, especially the development of new therapies, is a painstaking and time-consuming process, and today's announcement represents the culmination of nearly 20 years of work by researchers, clinicians and patientsI'm very happy to be involved in this process"
" many patients with long-chain fatty acid oxidation disorder may be hospitalized frequently and have major medical events, even if they receive the best care availableWith today's FDA approval, patients with this serious, unpredictable, and often catastrophic disease now have an approved treatmentDr Camille LBedrosian, Chief Medical Officer, Ultragenyx, said, "We thank patients, caregivers, families, dietitians and relevant physicians for helping make this milestone possible, and we are committed to ensuring that all LC-FAOD patients who may benefit from Dojolvi have access to it." "
References: Ultragenyx Announces U.S FDA Approve of Dojolvi ™ (UX007/triheptanoin), the First FDA-Approved Therapy for the Treatment of Long chain-Faty Acid Oxidation Retrieved June 30, 2020, from 2 Ultragenyx corporate presentation Retrieved June 30, 2020, from original title: 20 years of hard work is finally a success! FDA approves first drug therapy for rare metabolic diseases today